Fetal akinesia deformation sequence with pontocerebellar hypoplasia, and migration and gyration defects
Autops. Case Rep
;
11: e2021323, 2021. graf
Article
Dans Anglais
| LILACS
| ID: biblio-1339244
ABSTRACT
Fetal akinesia deformation sequence (FADS), or Pena-Shokeir phenotype is a constellation of deformational changes resulting from decreased or absent fetal movement, and include arthrogryposis, and craniofacial and central nervous system anomalies. We report an autopsy case of a 36-6/7week female neonate with a normal female karyotype and chromosome microarray demonstrating findings consistent with FADS. We provide a detailed examination of the severe and complex central nervous system abnormalities, including marked pontocerebellar hypoplasia and cortical and cerebellar migration and gyration defects. This case represents a rare detailed examination of the central nervous system of a patient with FADS.
Texte intégral:
Disponible
Indice:
LILAS (Amériques)
Sujet Principal:
Arthrogrypose
Limites du sujet:
Femelle
/
Humains
/
Nouveau-né
langue:
Anglais
Texte intégral:
Autops. Case Rep
Thème du journal:
Anatomia
/
Patologia Cl¡nica
/
Patologia Legal
Année:
2021
Type:
Article
Pays d'affiliation:
États-Unis d'Amérique
Institution/Pays d'affiliation:
C.W. Bill Young VA Medical Center/US
/
Norton Healthcare/US
/
Vanderbilt University Medical Center/US
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